Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18.

Abstract

A 4 year 3 month old boy with insulin dependent diabetes mellitus (IDDM), autoimmune thyroiditis, slight mental retardation, facial dysmorphism, and a de novo ring chromosome 18 (deletion 18q22.3-18qter) is described. This unique association of defects could represent a chance association. Alternatively, the clinical features could be the result of the chromosomal aberration. If so, one could speculate that a gene or genes on chromosome 18 might act as a suppressor or activator of the autoimmune process by itself or in concert with other IDDM loci.

• Authors: C Dacou-Voutetakis, A Sertedaki, M Maniatis-Christidis, C Sarri, G Karadima, M B Petersen, A Xaidara, M Kanariou, P Nicolaidou
• Journal: Journal of medical genetics (J Med Genet) Vol. 36 Issue 2 Pg. 156-8 (Feb 1999) ISSN: 0022-2593 [Print] England
• PMID: 10051018 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Blood Chemical Analysis
• Child, Preschool
• Chromosome Banding
• Chromosomes, Human, Pair 18 (genetics)
• Diabetes Mellitus, Type 1 (genetics)
• Gene Deletion
• Histocompatibility Testing
• Humans
• In Situ Hybridization, Fluorescence
• Intellectual Disability (genetics)
• Male
• Microsatellite Repeats
• Ring Chromosomes
• Thyroiditis, Autoimmune (genetics)